ClinVar Miner

List of variants in gene GLB1 reported as likely pathogenic for GM1 gangliosidosis type 3

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355 0.00008
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 0.00006
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys) rs748345527 0.00005
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351 0.00003
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) rs780724173 0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418 0.00002
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881 0.00002
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232 0.00002
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn) rs749980306 0.00001
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) rs28934886 0.00001
NM_000404.4(GLB1):c.1438A>G (p.Met480Val) rs1280400930 0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000404.4(GLB1):c.1479+1G>A rs1022476871 0.00001
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368 0.00001
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter) rs778375259 0.00001
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) rs72555393 0.00001
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe) rs1699791081 0.00001
NM_000404.4(GLB1):c.397-1G>A rs398123353 0.00001
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233 0.00001
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000404.4(GLB1):c.931G>A (p.Gly311Arg) rs368568171 0.00001
NM_000404.4(GLB1):c.1023_1024del (p.Asp342fs)
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1122T>A (p.Tyr374Ter)
NM_000404.4(GLB1):c.1142del (p.Lys381fs) rs2125478934
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1147A>T (p.Lys383Ter)
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1233+1G>A rs1553606984
NM_000404.4(GLB1):c.1242del (p.Phe415fs)
NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs) rs1697335361
NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter) rs1697334156
NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter) rs2125469895
NM_000404.4(GLB1):c.1347+1G>T
NM_000404.4(GLB1):c.1379_1380del (p.Val460fs)
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.146G>C (p.Arg49Pro)
NM_000404.4(GLB1):c.1471G>T (p.Asp491Tyr)
NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs) rs1553606130
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs) rs1553606128
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter) rs1553606091
NM_000404.4(GLB1):c.1634dup (p.Asn545fs) rs754131566
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter) rs1803200
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.4(GLB1):c.1792C>T (p.Gln598Ter)
NM_000404.4(GLB1):c.1823T>C (p.Leu608Pro)
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys) rs759483184
NM_000404.4(GLB1):c.1991del (p.Pro664fs) rs1553604677
NM_000404.4(GLB1):c.230_231del (p.Leu77fs)
NM_000404.4(GLB1):c.245+1G>C rs778423653
NM_000404.4(GLB1):c.288C>G (p.Tyr96Ter)
NM_000404.4(GLB1):c.289C>T (p.Gln97Ter)
NM_000404.4(GLB1):c.302del (p.Asp101fs) rs1553612213
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu) rs397515616
NM_000404.4(GLB1):c.425_426del (p.Lys142fs) rs1553612150
NM_000404.4(GLB1):c.433_437del (p.Ile145fs) rs1553612145
NM_000404.4(GLB1):c.435_436delinsA (p.Leu146fs)
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.462C>G (p.Tyr154Ter)
NM_000404.4(GLB1):c.468del (p.Ala157fs)
NM_000404.4(GLB1):c.487_488del (p.Gly163fs)
NM_000404.4(GLB1):c.488dup (p.Val164fs)
NM_000404.4(GLB1):c.500_501del (p.Pro167fs)
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro) rs397515617
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter) rs1553611789
NM_000404.4(GLB1):c.531_534del (p.Gly178fs) rs1559408259
NM_000404.4(GLB1):c.552+2T>C rs1553611778
NM_000404.4(GLB1):c.597_598del (p.Leu200fs)
NM_000404.4(GLB1):c.626del (p.His209fs) rs1553611044
NM_000404.4(GLB1):c.645_648del (p.Val216fs) rs1553611040
NM_000404.4(GLB1):c.694dup (p.Ala232fs) rs1553611025
NM_000404.4(GLB1):c.710A>G (p.Tyr237Cys)
NM_000404.4(GLB1):c.733+1G>A rs1041204916
NM_000404.4(GLB1):c.733+2_733+4del rs1553611016
NM_000404.4(GLB1):c.765G>C (p.Gln255His) rs1553610553
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.775G>T (p.Glu259Ter) rs1699086565
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter) rs1378338444
NM_000404.4(GLB1):c.835del (p.Gln279fs)
NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter) rs1699002261
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) rs72555361
NM_000404.4(GLB1):c.955+2T>G rs746883447

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